Gangliosidosis Overview
Learn About Gangliosidosis
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Duke Health Integrated Practice Inc
Areeg El-Gharbawy is a Medical Genetics specialist and an Endocrinologist in Durham, North Carolina. Dr. El-Gharbawy and is rated as an Experienced provider by MediFind in the treatment of Gangliosidosis. Her top areas of expertise are Von Gierke Disease, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Mitochondrial Trifunctional Protein Deficiency, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. El-Gharbawy is currently accepting new patients.
Summary: Hypothesis: To characterize and describe disease progression and heterogeneity of the gangliosidosis diseases. This research study seeks to develop a quantitative method to delineate disease progression for the gangliosidosis diseases (Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis) in order to better understand the natural history and heterogeneity of these diseases. Such a quantitat...
Objectives: To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient/parent surveys. To develop sensitive tools for monitoring disease progression. To identify biological markers in blood...